BIG DATA: from the Moli-sani project to the Neuromed

integrated health platform and Biobank

Maria Benedetta Donati Giovanni de Gaetano and Licia Iacoviello

Department of Epidemiology and Prevention IRCCS, Istituto Neurologico Mediterraneo NEUROMED, Pozzilli, Italy

mbdonati@moli-sani.org

INDEX

1. Introduction

2. The Moli-sani project

3. Neuromed health platform and biobank

BIG DATA ? A LARGE AMOUNT OF PIECES OF INFORMATION?

A NEW WAY OF ANALYSING SUCH A LARGE BULK OF DATA?

BIG DATA: A NEW ERA ? SUCH A LARGE AND COMPLEX AMOUNT OF DATA NEEDS TO BE

ANALYSED BY NEW ADVANCED TECHNOLOGIES, ABLE TO

DISCOVER NEW INTERACTIONS AMONG SYSTEMS AND

PROVIDE NEW KNOWLEDGE

TO COLLECT AND STORE THE HIGHEST AMOUNT OF

INFORMATION FOR SCIENTIFIC RESEARCH, THROUGH COLLABORATIONS WITH HEALTH OPERATORS (general practitioners, medical specialists, hospitals,…) AND SOCIO-ECONOMICAL LOCAL AND REGIONAL SERVICES

TO BETTER UNDERSTAND DETERMINANTS OF HEALTH AND DISEASE FOCUSSING ON PREDICTION/PREVENTION APPROACHES, ACCORDING TO THE PRINCIPLES OF PERSONALIZED MEDICINE

TO CREATE GUIDELINES FOR RISK PROFILE, PREVENTION, DIAGNOSIS AND TREATMENT OF CHRONIC DEGENERATIVE DISORDERS, WITH AN INTEGRATED APPROACH TO PRECISION MEDICINE

BIG DATA FOR HEALTH

Health, Genetics and Lifestyles

An Italian region transformed in a scientific laboratory

to better understand the equilibrium

between genetics and environment

on cardio-cerebro-vascular disease and cancer risk

24,325 residents in the Molise region

Aged ≥ 35 years

Recruitment phase: 2005-2010

Median follow-up: 8 years

Second follow-up: December 2015

Study duration …∞ years

Rome

The Moli-sani study

THE “COMMON SOIL” HYPOTHESIS

Donati, 2003, 2007 and 2010 Iacoviello, 2008

Cardiovascular disease, tumors and neurodegenerative disease share some common

physiopathological mechanisms and risk factors

24,325 people living in Molise

Aged 35 years or more

Recruitment phase: 2005-2010

Median follow-up: 8.3 years Cardio-cerebrovascular disease

Tumors

Neurodegenerative disease

Common intermediate phenotypes: Metabolic syndrome Obesity Hypertension Dyslipidemia Diabetes

EPIDEMIOLOGICAL STUDY

CLINICAL END-POINTS

The Moli-sani Project

A typical “Moli-sani” day: paper-less questionnaires

Anamnestic questionnaire explored the condition of each volunteer from a clinical and lifestyle point of view

EPIC-modified Food Frequency Questionnaire provided detailed information about type and amount of one-year recall food consumption

Biological samples stored in liquid nitrogen

A typical “Moli-sani” day: Laboratory tests

DNA extraction

Biological tests Blood cell counts Cholesterol, HDL, LDL, TG Glucose C Reactive Protein D-dimers

700,000 blood samples in 4,080 goblets filled-in 28 paillettes per person: 8 red for plasma EDTA 6 blue for plasma citrate 8 yellow for serum 6 green for pellet

The Moli-sani Bio-Bank

Urine samples: 3-hr morning collection 4 vials, 5 ml per person

goblet

THE «BIG DATA» OF THE MOLI-SANI PROJECT

VARIABLE Number/subject Total number Clinical history 2100 51 082 5200 Family history 841 20 457 325 ECG 617 15 008 525 Spirometry 153 3 721 725 Biomarkers 592 14 400 400 Dietary habits 1 600 38 920 000 Follow-up 680 16 564 664 TOTAL 6 583 160 155 139

Ragusa

Napoli

Firenze

Torino

Varese EPIC ITALIA

Maastricht - The Netherlands

THE «BIG DATA» OF THE MOLI-SANI PROJECT BECOME BIGGER AND BIGGER…

Reggia di Caserta

Neurobiotech, Caserta

RESEARCH CENTER FOR BIG DATA AND PERSONALISED HEALTH

NEUROMED CLINICAL NETWORK

Centro Giovanni Paolo II Viale Europa - Loc. S.P. Piturno - 70017 Putignano

(Ba)

RESEARCH CENTER FOR BIG DATA AND PERSONALISED HEALTH

HUB TO COLLECT DATA FROM THE PATIENTS FROM THE NEUROMED CLINICAL NETWORK

BIOBANK TO STORE BIOLOGICAL SAMPLES

BIOTECHNOLOGICAL PLATFORM FOR «OMICS» MEASUREMENTS (genomics, epigenomics, proteomics, metabolomics, microbioma, …)

BIOTECHNOLOGICAL PLATFORM FOR ENVIRONMENTAL AND FOOD ANALYSES

INFORMATIC PLATFORM FOR STORAGE AND ANALYSIS OF DIAGNOSTIC IMAGING

INTEGRATED DIGITAL PLATFORM FOR BIG DATA ANALYSES TOWARDS PERSONALIZED HEALTH AND MEDICINE

BIG DATA … INGREDIENTS ?

INDIVIDUAL DATA

ENVIRONMENTAL DATA

HEALTH SYSTEM DATA

DATA FROM WEARABLE DEVICES

OTHER

AN EXAMPLE OF BIG DATA FROM … BREXIT

Inclusion of patients in study of clinically recorded alcohol consumption and initial presentation of 12 cardiovascular diseases

Steven Bell et al. BMJ 2017;356:bmj.j909

©2017 by British Medical Journal Publishing Group

DIGITAL PLATFORM OF BIG DATA

DATA STORAGE

DATA MANAGEMENT

DATA ANALYSIS

DATA MINING

“DATA-MINING” EXPECTED RESULTS

Algorithms and guidelines for interpretation of diagnostic imaging and biochemical

parameters primary and secondary risk prediction personalized management of prevention and therapy personalized nutrition and lifestyles improving environmental and living conditions

relevant for prevention of chronic degenerative disease (cardiovascular, oncological and neurodegenerative)

PREVENTIVE

PREDICTIVE

PERSONALIZED

PARTICIPATED

«4 P» MEDICAL APPROACH

THANK YOU

Department of Epidemiology and Prevention IRCCS NEUROMED, Pozzilli, Italy

Chiara Cerletti